Literature DB >> 32775533

STUB1-Related Ataxias: A Challenging Diagnosis.

Sirio Cocozza1, Filippo M Santorelli2, Giuseppe De Michele3.   

Abstract

Entities:  

Keywords:  SCA48; SCAR16; STUB1; ataxia; dystonia

Year:  2020        PMID： 32775533      PMCID： PMC7396834          DOI： 10.1002/mdc3.12992

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


× No keyword cloud information.
  5 in total

1.  The "crab sign": an imaging feature of spinocerebellar ataxia type 48.

Authors:  Sirio Cocozza; Giuseppe Pontillo; Giovanna De Michele; Teresa Perillo; Elvira Guerriero; Lorenzo Ugga; Elena Salvatore; Daniele Galatolo; Vittorio Riso; Francesco Saccà; Mario Quarantelli; Arturo Brunetti
Journal:  Neuroradiology       Date:  2020-04-14       Impact factor: 2.804

Review 2.  Spinocerebellar ataxia type 48: last but not least.

Authors:  Giovanna De Michele; Daniele Galatolo; Melissa Barghigiani; Diletta Dello Iacovo; Rosanna Trovato; Alessandra Tessa; Elena Salvatore; Alessandro Filla; Giuseppe De Michele; Filippo M Santorelli
Journal:  Neurol Sci       Date:  2020-04-27       Impact factor: 3.307

3.  Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48).

Authors:  David Genis; Sara Ortega-Cubero; Hector San Nicolás; Jordi Corral; Josep Gardenyes; Laura de Jorge; Eva López; Berta Campos; Elena Lorenzo; Raúl Tonda; Sergi Beltran; Montserrat Negre; María Obón; Brigitte Beltran; Laura Fàbregas; Berta Alemany; Fabián Márquez; Lluís Ramió-Torrentà; Jordi Gich; Víctor Volpini; Pau Pastor
Journal:  Neurology       Date:  2018-10-31       Impact factor: 9.910

4.  Extending the Phenotypic Spectrum Associated with STUB1 Mutations: A Case of Dystonia.

Authors:  Diana A Olszewska; Justin A Kinsella
Journal:  Mov Disord Clin Pract       Date:  2020-03-09

5.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822
  5 in total
  1 in total

1.  The molecular basis of spinocerebellar ataxia type 48 caused by a de novo mutation in the ubiquitin ligase CHIP.

Authors:  A Umano; K Fang; Z Qu; J B Scaglione; S Altinok; C J Treadway; E T Wick; E Paulakonis; C Karunanayake; S Chou; T M Bardakjian; P Gonzalez-Alegre; R C Page; J C Schisler; N G Brown; D Yan; K M Scaglione
Journal:  J Biol Chem       Date:  2022-04-07       Impact factor: 5.486
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.